Klippel-Feil syndrome 1, autosomal dominant
- Synonyms
- CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (31 available)
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Congenital muscular torticollis
Congenital muscular torticollis
- MedGen UID: 86902
- Concept ID: C0079352
- Finding: Congenital Abnormality
Abnormality of head or neck
- Facial asymmetry
Facial asymmetry
- MedGen UID: 266298
- Concept ID: C1306710
- Finding: Finding
Abnormality of head or neck
- Limited neck range of motion
Limited neck range of motion
- MedGen UID: 395202
- Concept ID: C1859212
- Finding: Finding
Abnormality of head or neck
- Low posterior hairline
Low posterior hairline
- MedGen UID: 383755
- Concept ID: C1855728
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Webbed neck
Webbed neck
- MedGen UID: 113154
- Concept ID: C0221217
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
- Abnormality of limbs
- Abnormal limb bone morphology
Abnormal limb bone morphology
- MedGen UID: 904271
- Concept ID: C4082761
- Finding: Anatomical Abnormality
Abnormality of limbs
- Abnormal limb bone morphology
- Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
Abnormal cardiovascular system morphology
- MedGen UID: 892473
- Concept ID: C4049796
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
- Abnormality of the genitourinary system
- Abnormality of the kidney
Abnormality of the kidney
- MedGen UID: 78593
- Concept ID: C0266292
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Unilateral renal agenesis
Unilateral renal agenesis
- MedGen UID: 75607
- Concept ID: C0266294
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Abnormality of the kidney
- Abnormality of the musculoskeletal system
- Abnormal rib morphology
Abnormal rib morphology
- MedGen UID: 330763
- Concept ID: C1842083
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Abnormal vertebral segmentation and fusion
Abnormal vertebral segmentation and fusion
- MedGen UID: 870713
- Concept ID: C4025167
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Congenital elevation of scapula
Congenital elevation of scapula
- MedGen UID: 56291
- Concept ID: C0152438
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Klippel-Feil syndrome
Klippel-Feil syndrome
- MedGen UID: 9645
- Concept ID: C0022738
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Abnormal rib morphology
- Abnormality of the nervous system
- Abnormality of the nervous system
Abnormality of the nervous system
- MedGen UID: 105425
- Concept ID: C0497552
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Bimanual synkinesia
Bimanual synkinesia
- MedGen UID: 473166
- Concept ID: C0454455
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cervicomedullary schisis
Cervicomedullary schisis
- MedGen UID: 868119
- Concept ID: C4022510
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Posterior fossa cyst
Posterior fossa cyst
- MedGen UID: 341753
- Concept ID: C1857353
- Finding: Finding
Abnormality of the nervous system
- Abnormality of the nervous system
- Ear malformation
- Conductive hearing impairment
Conductive hearing impairment
- MedGen UID: 9163
- Concept ID: C0018777
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Mixed hearing impairment
Mixed hearing impairment
- MedGen UID: 102336
- Concept ID: C0155552
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Conductive hearing impairment
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